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Results 231 to 240 of about 168,911 (294)

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta +9 more
wiley +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta +17 more
wiley +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt +9 more
wiley +1 more source

Are There Causal Associations Between Obsessive‐Compulsive Disorder and Cardiometabolic Phenotypes? A Genetic Correlation and Bi‐Directional Mendelian Randomization Study

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT In epidemiological studies, obsessive‐compulsive disorder (OCD) is robustly associated with increased risk of cardiometabolic disorders, including cardiovascular diseases, type 2 diabetes, and obesity. However, the mechanisms behind these associations are unclear. We conducted genetic correlation analyses to explore shared genetic etiology and
Robyn E. Wootton +217 more
wiley +1 more source

Altered Nasal Microbiota in Sinonasal Tumors: A Comparative Analysis of Malignant and Benign Sinonasal Tumors

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Although shifts in nasal microbiota have been well‐documented in inflammatory upper airway conditions, microbiota tumor‐associated alterations remain uncharacterized. This study is the first to compare sinonasal microbiota profiles of patients with malignant tumors (MT), benign tumors (BT), and controls, offering insights into tumor‐
Evan A. Patel +13 more
wiley +1 more source

Tree shrew model of early diabetic retinopathy reveals microvascular dysfunction and identifies phosphoserine aminotransferase 1 as a novel therapeutic target

Animal Models and Experimental Medicine, EarlyView.
We developed an animal model of early diabetic retinopathy (DR) in the tree shrew by feeding a high‐fat and high‐sugar diet in combination with STZ. Physiological and biochemical index detection, hematoxylin and eosin staining, and transmission electron microscopy were performed to examine DR.
Min Qiu +10 more
wiley +1 more source

Quantitative proteomics identifies clusterin as a novel biomarker for atherosclerosis

Animal Models and Experimental Medicine, EarlyView.
This schematic illustrates the proposed mechanism. In advanced atherosclerotic lesions, upregulated CLU on the cell surface activates low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1). This interaction triggers the phosphorylation and activation of AKT.
Dengfeng Ding +10 more
wiley +1 more source

Dietary fats and mortality among patients with type 2 diabetes: analysis in two population based cohort studies.

BMJ, 2019
Jiao J +8 more
europepmc +1 more source

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